Related gene-specific medical variations for Gene (Select 8517) - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075739	NM_001360016.2(G6PD):c.-32G>T	G6PD, IKBKG +2 more (G20V)	Single nucleotide variant (missense variant +2 more)	Malaria, susceptibility to +1 more	GUncertain significance
Select item 3043617	NM_001360016.2(G6PD):c.-14G>A	G6PD, IKBKG +2 more (S26N)	Single nucleotide variant (missense variant +2 more)	G6PD-related disorder	GBenign
Select item 3036272	NM_001360016.2(G6PD):c.-9+9C>A	G6PD, IKBKG +2 more	Single nucleotide variant (intron variant)	G6PD-related disorder	GLikely benign
Select item 3026816	NM_000402.4(G6PD):c.10C>G (p.Arg4Gly)	G6PD, IKBKG +2 more (R4G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3025953	NM_001360016.2(G6PD):c.97A>G (p.Ile33Val)	G6PD, IKBKG (I33V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3014677	NM_001360016.2(G6PD):c.41G>T (p.Gly14Val)	G6PD, IKBKG (G14V +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 2987800	NM_001360016.2(G6PD):c.26G>A (p.Arg9Gln)	G6PD, IKBKG (R39Q +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 2963593	NM_001360016.2(G6PD):c.120+14A>T	G6PD, IKBKG	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2915780	NM_001360016.2(G6PD):c.73G>A (p.Ala25Thr)	G6PD, IKBKG (A25T +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 2885573	NM_001360016.2(G6PD):c.60T>C (p.Leu20=)	G6PD, IKBKG	Single nucleotide variant (synonymous variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2875918	NM_001360016.2(G6PD):c.120+13C>G	G6PD, IKBKG	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2722002	NM_001360016.2(G6PD):c.84G>T (p.Gln28His)	G6PD, IKBKG (Q28H +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 2691687	NM_001360016.2(G6PD):c.112G>A (p.Gly38Ser)	G6PD, IKBKG (G38S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2628726	NM_001360016.2(G6PD):c.-17G>T	G6PD, IKBKG +2 more (R25L)	Single nucleotide variant (missense variant +2 more)	G6PD-related disorder	GUncertain significance
Select item 2441600	NM_001360016.2(G6PD):c.50G>A (p.Arg17Gln)	G6PD, IKBKG (R17Q +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 2417454	NM_001360016.2(G6PD):c.34G>A (p.Val12Met)	G6PD, IKBKG (V12M +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 2262342	NM_001360016.2(G6PD):c.68G>T (p.Gly23Val)	G6PD, IKBKG (G53V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238562	NM_001360016.2(G6PD):c.120+3667_120+3668del	G6PD, IKBKG +1 more (I36fs)	Deletion (frameshift variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2180347	NM_001360016.2(G6PD):c.87G>A (p.Ser29=)	G6PD, IKBKG	Single nucleotide variant (synonymous variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2175113	NM_001360016.2(G6PD):c.21G>A (p.Leu7=)	G6PD, IKBKG	Single nucleotide variant (synonymous variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2119965	NM_001360016.2(G6PD):c.79C>T (p.His27Tyr)	G6PD, IKBKG (H27Y +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 2118562	NM_001360016.2(G6PD):c.88G>A (p.Asp30Asn)	G6PD, IKBKG (D60N +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1722722	NM_001360016.2(G6PD):c.120+3126T>C	G6PD, IKBKG +1 more	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GBenign
Select item 1722713	NM_001360016.2(G6PD):c.120+2955A>G	G6PD, IKBKG +1 more	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GBenign
Select item 1722692	NM_001360016.2(G6PD):c.94C>G (p.His32Asp)	G6PD, IKBKG (H32D +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722690	NM_001360016.2(G6PD):c.25C>T (p.Arg9Trp)	G6PD, IKBKG (R39W +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1722687	NM_001360016.2(G6PD):c.34G>T (p.Val12Leu)	G6PD, IKBKG (V12L +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722683	NM_001360016.2(G6PD):c.7G>A (p.Glu3Lys)	G6PD, IKBKG (E33K +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722674	NM_000402.4(G6PD):c.7C>T (p.Arg3Trp)	G6PD, IKBKG +2 more (R3W)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722654	NM_001360016.2(G6PD):c.107T>C (p.Ile36Thr)	G6PD, IKBKG (I36T +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GBenign
Select item 1722649	NM_001360016.2(G6PD):c.31C>T (p.Gln11Ter)	G6PD, IKBKG (Q11* +1 more)	Single nucleotide variant (nonsense +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic
Select item 1722643	NM_001042351.3(G6PD):c.-9+2T>G	G6PD, IKBKG +1 more	Single nucleotide variant (splice donor variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic
Select item 1720330	NM_001360016.2(G6PD):c.73G>T (p.Ala25Ser)	G6PD, IKBKG (A25S +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1717047	NM_001360016.2(G6PD):c.77T>C (p.Phe26Ser)	G6PD, IKBKG (F26S +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1699101	NM_001360016.2(G6PD):c.120+3625G>A	G6PD, IKBKG +1 more (R50C)	Single nucleotide variant (missense variant +1 more)	Ectodermal dysplasia and immunodeficiency 1 +1 more	GLikely benign
Select item 1679436	NM_001360016.2(G6PD):c.-9+10C>T	G6PD, IKBKG +2 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632792	NM_001360016.2(G6PD):c.30C>A (p.Thr10=)	G6PD, IKBKG	Single nucleotide variant (synonymous variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 1540771	NM_001360016.2(G6PD):c.78C>T (p.Phe26=)	G6PD, IKBKG	Single nucleotide variant (synonymous variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 1468590	NM_001360016.2(G6PD):c.94C>T (p.His32Tyr)	G6PD, IKBKG (H62Y +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1410921	NM_001099857.5(IKBKG):c.-16+1G>T	G6PD, IKBKG +2 more	Single nucleotide variant (intron variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1342476	NM_001360016.2(G6PD):c.72T>A (p.Asp24Glu)	G6PD, IKBKG (D24E +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1342446	NM_001099857.5(IKBKG):c.399+6C>T	IKBKG	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 1 +1 more	GUncertain significance
Select item 1280478	NM_001042351.3(G6PD):c.-9+323=	G6PD, IKBKG +2 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246459	NM_001360016.2(G6PD):c.120+199dup	G6PD, IKBKG	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1237186	NM_001042351.3(G6PD):c.-9+340=	G6PD, IKBKG +2 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228119	NM_001360016.2(G6PD):c.120+235G>A	G6PD, IKBKG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203666	NM_001360016.2(G6PD):c.120+199del	G6PD, IKBKG	Deletion (intron variant)	not provided	GLikely benign
Select item 1128354	NM_001360016.2(G6PD):c.120+7A>G	G6PD, IKBKG	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 932047	NM_001099857.5(IKBKG):c.358C>T (p.Gln120Ter)	IKBKG (Q188* +1 more)	Single nucleotide variant (nonsense +1 more)	Incontinentia pigmenti syndrome	GPathogenic
Select item 916678	IKBKG, 2-BP DEL, 1182TT	IKBKG	Deletion	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED +1 more	GPathogenic
Select item 914799	NM_001042351.3(G6PD):c.-23G>A	G6PD, IKBKG +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	G6PD deficiency	GUncertain significance
Select item 914798	NM_001042351.3(G6PD):c.-9+14C>G	LOC107181288, G6PD +1 more	Single nucleotide variant (intron variant)	G6PD deficiency	GUncertain significance
Select item 914797	NM_001360016.2(G6PD):c.88G>T (p.Asp30Tyr)	G6PD, IKBKG (D60Y +1 more)	Single nucleotide variant (missense variant +1 more)	G6PD deficiency	GUncertain significance
Select item 811461	NM_001360016.2(G6PD):c.120+3617T>C	G6PD, IKBKG +1 more	Single nucleotide variant (synonymous variant +1 more)	IKBKG-related disorder +2 more	GBenign/Likely benign
Select item 811123	NM_001360016.2(G6PD):c.-9+7G>C	G6PD, IKBKG +2 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 625962	NM_001360016.2(G6PD):c.120+3646C>T	G6PD, IKBKG +1 more (G43R)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 33 +4 more	GUncertain significance
Select item 618180	NM_001099857.5(IKBKG):c.440C>T (p.Thr147Met)	IKBKG (T147M +2 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 521562	NM_001360016.2(G6PD):c.120+3754C>T	G6PD, IKBKG +1 more (V7M)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 368104	NM_001042351.2(G6PD):c.-111A>G	G6PD, IKBKG +1 more	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GBenign/Likely benign
Select item 368103	NM_001360016.2(G6PD):c.120+7A>C	G6PD, IKBKG	Single nucleotide variant (intron variant)	G6PD deficiency +1 more	GConflicting classifications of pathogenicity
Select item 286551	NM_001360016.2(G6PD):c.120+9C>T	G6PD, IKBKG	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 93504	NM_001360016.2(G6PD):c.98T>C (p.Ile33Thr)	G6PD, IKBKG (I33T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 68240	NM_001099857.5(IKBKG):c.967G>C (p.Ala323Pro)	IKBKG (A323P +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 68238	NM_001099857.5(IKBKG):c.680T>C (p.Leu227Pro)	IKBKG (L227P +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 68237	NM_001099857.5(IKBKG):c.524G>C (p.Arg175Pro)	IKBKG (R175P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 68236	NM_001099857.5(IKBKG):c.367C>T (p.Arg123Trp)	IKBKG (R123W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 68233	NM_001099857.5(IKBKG):c.1250G>A (p.Cys417Tyr)	IKBKG (C417Y +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 10403	NM_000402.4(G6PD):c.185A>G (p.His62Arg)	G6PD, IKBKG (H32R +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset coronary artery disease +4 more	GPathogenic/Likely pathogenic
Select item 10400	NM_001360016.2(G6PD):c.102CAT[2] (p.Ile36del)	G6PD, IKBKG (I66del +1 more)	Microsatellite (inframe_deletion +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GConflicting classifications of pathogenicity

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Items: 69